Clinical Translation
The Program in Translational Genetics focuses on bridging basic laboratory and statistical research with the everyday lives of patients and families. Our understanding about which genes and biological systems are at the root of health problems is expanding at a breathtaking rate. This success has created a need to make the connections between laboratory science and clinical medicine. This process is often referred to as "bench to bedside." The translation can take a number of forms. For some diseases and conditions, we now have powerful tools for prediction and identification of individuals at risk. Not only can these new genetic tests help with identifying potential health problems, but also they can point to lifestyle modifications or better choices in therapies that are tailored for the individual. Another active field is using the genetic "systems" identified by basic research to develop new medicines and therapies. By understanding the relevant pathways to disease, we can use our existing knowledge about them to develop, test, and employ entirely new types of drugs. Here are a few examples:
Age-Related Macular degeneration (AMD) is a progressive eye condition that affects as many as 10 million people in the United States and is the leading cause of vision loss and legal blindness in people over the age of 60. Researchers in the Center for Human Genetics first identified a gene called Complement Factor H, which is involved in inflammation, as a major risk factor. This finding led them to look at health risks that would affect inflammation, and they quickly found that smoking was a major risk factor for AMD. This information can now be used by health professionals to better advise and screen their patients about risks and health choices in this very common condition. This Vanderbilt work has been published in top journals like Science and reported in the national news.
Congenital heart defects are the most common serious birth defect seen in children. Most of these children require corrective surgery in the first few years of life (more than 25,000 children each year in the United States). About one third of these surgeries are followed by a serious complication from a rapid rise in blood pressure in the lungs, resulting in significant strain on the heart, much longer times on mechanical ventilators, and sometimes death. Vanderbilt scientists in the CHGR discovered a genetic change in a biochemical pathway that identifies the chemicals that the lung uses to dilate blood vessels as the culprit. This led to a way to predict who would develop problems. More importantly, it showed which chemical was important to keep the pressure normal. This led to a study to see if replacing this chemical (the amino acid citrulline) would prevent the problem. The study succeeded, and Vanderbilt is now leading an international study to confirm these findings and establish this as a standard FDA-approved treatment for the condition. This work suggested avenues to other similar diseases affecting patients from adult to very premature infants. The study and its results have been featured in The New England Journal of Medicine and numerous pediatric and surgical journals.
The Program in Translational Genetics works closely with the other branches of the CHGR to identify and develop promising new therapies and diagnostic tests arising from basic science. It also collaborates with all of the departments at Vanderbilt Medical Center to bring these to our patients.
Age-Related Macular degeneration (AMD) is a progressive eye condition that affects as many as 10 million people in the United States and is the leading cause of vision loss and legal blindness in people over the age of 60. Researchers in the Center for Human Genetics first identified a gene called Complement Factor H, which is involved in inflammation, as a major risk factor. This finding led them to look at health risks that would affect inflammation, and they quickly found that smoking was a major risk factor for AMD. This information can now be used by health professionals to better advise and screen their patients about risks and health choices in this very common condition. This Vanderbilt work has been published in top journals like Science and reported in the national news.
Congenital heart defects are the most common serious birth defect seen in children. Most of these children require corrective surgery in the first few years of life (more than 25,000 children each year in the United States). About one third of these surgeries are followed by a serious complication from a rapid rise in blood pressure in the lungs, resulting in significant strain on the heart, much longer times on mechanical ventilators, and sometimes death. Vanderbilt scientists in the CHGR discovered a genetic change in a biochemical pathway that identifies the chemicals that the lung uses to dilate blood vessels as the culprit. This led to a way to predict who would develop problems. More importantly, it showed which chemical was important to keep the pressure normal. This led to a study to see if replacing this chemical (the amino acid citrulline) would prevent the problem. The study succeeded, and Vanderbilt is now leading an international study to confirm these findings and establish this as a standard FDA-approved treatment for the condition. This work suggested avenues to other similar diseases affecting patients from adult to very premature infants. The study and its results have been featured in The New England Journal of Medicine and numerous pediatric and surgical journals.
The Program in Translational Genetics works closely with the other branches of the CHGR to identify and develop promising new therapies and diagnostic tests arising from basic science. It also collaborates with all of the departments at Vanderbilt Medical Center to bring these to our patients.